I have a familial dilated cardiomyopathy due to an LMnA gene mutation. I’m excited to try Rapa this week and hopefully prevent the need for heart transplantation in the future.
I have been independently searching to find a potential way to prevent this disease progressing most of my adult life. I refuse to accept that there is nothing I can do (except the obvious standard lifestyle/ traditional medications) and just have to deal with a bad genetic hand. This disease manifests in my family the 4th decade and my sister, cousins and I are all early 40s. My father, uncle and aunt all went from normal/very good health to on a heart transplant list in their early/mid 40s.
GOAL: I want to help as many people as possible with LMNA mutation. As this isn’t currently a standard treatment, please guide me with the following.
How is it best to share my results and collect data?
What blood tests or lab work should I try to get?
How would I get labs covered by insurance if I’m prescribed Rapa for longevity, not CHF?
Where might I find other resources on LMnA/genetic mutation?
Thanks so much and I hope you all have long lives full of health and happiness!
Tom
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*(Long winded story below. It’s a really emotional topic for me. I’m hopeful.)
Hello,
My family has a significant LMNa gene mutation causing Dilated Cardiomyopathy. When I was in high school my Father, Uncle and Aunt all went from normal/good health to the heart transplant list. They were all in their 40s when they received hearts or passed away. They were wonderful people that passed away far too early.
My sister and I were followed closely by cardiology and I received genetic testing before starting a family. Unfortunately I was positive for the mutation but we successfully screened our embryos and have a beautiful, healthy 5yr old son that will never have to deal with this condition. I have few symptoms except fatigue and an EF of 45%. I feel so fortunate to have good insurance and live in Boston where there is incredible care.
Over the past 24yrs I learned a lot about my families DCM. It seems fairly rare and has a 90% penetrance rate. I often felt hopeless, scared and personally struggled significantly from the trauma. I have a beautiful life but when it comes to DCM I was always told that, outside of standard healthy lifestyle and typical CHF drugs, it was highly probably I would experience CHF and need a heart transplant or die young. I never was okay with there being no real cure or treatment. I will be 40 in a few days and I’m ready to start Rapa tomorrow!
Wishing you all the best on your journey!
